Canonical Allele Identifier: CA129026
Gene: GATA6 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.22171695G>A
GRCh37 chr18:g.19751656G>A
Revel Score:
ENST00000269216 (MANE Select) 0.324
gnomAD v2:
18:19751656 G / A
gnomAD v3:
18:22171695 G / A
gnomAD v4:
chr18-22171695-G-A
Joint Max Group AF 0.00600852 (EAS)
Genomes Max Group AF 0.00390012 (EAS)
Exomes Max Group AF 0.00613798 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22171695G>A , CM000680.2:g.22171695G>A GRCh38
NC_000018.9:g.19751656G>A , CM000680.1:g.19751656G>A GRCh37
NC_000018.8:g.18005654G>A NCBI36
NG_032677.1:g.7253G>A
NG_032677.2:g.7259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269216.10:c.551G>A MANE Select ENSP00000269216.3:p.Ser184Asn
ENST00000269216.7:c.551G>A ENSP00000269216.3:p.Ser184Asn
ENST00000581694.1:c.551G>A ENSP00000462313.1:p.Ser184Asn
NM_005257.5:c.551G>A NP_005248.2:p.Ser184Asn
NM_005257.6:c.551G>A MANE Select NP_005248.2:p.Ser184Asn
Search 100 bp 5'
Search 100 bp 3'